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Volumn 30, Issue 1, 2014, Pages 32-39

Genetics of recessive cognitive disorders

Author keywords

Autosomal recessive ID; Healthcare; Homozygosity mapping; Next generation sequencing

Indexed keywords

MEMBRANE PROTEIN; RAB PROTEIN;

EID: 84891157201     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tig.2013.09.008     Document Type: Review
Times cited : (112)

References (109)
  • 1
    • 34247097562 scopus 로고    scopus 로고
    • The renaming of mental retardation: understanding the change to the term intellectual disability
    • Schalock R.L., et al. The renaming of mental retardation: understanding the change to the term intellectual disability. Intellect. Dev. Disabil. 2007, 45:116-124.
    • (2007) Intellect. Dev. Disabil. , vol.45 , pp. 116-124
    • Schalock, R.L.1
  • 2
    • 84871103234 scopus 로고    scopus 로고
    • American Psychiatric Association, American Psychiatric Association
    • American Psychiatric Association Diagnostic and Statistic Manual of Mental Disorders 2000, American Psychiatric Association. 4th Revision: DSM-IV-TR.
    • (2000) Diagnostic and Statistic Manual of Mental Disorders
  • 3
    • 0036948248 scopus 로고    scopus 로고
    • The epidemiology of mental retardation: challenges and opportunities in the new millennium
    • Leonard H., Wen X. The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment. Retard. Dev. Disabil. Res. Rev. 2002, 8:117-134.
    • (2002) Ment. Retard. Dev. Disabil. Res. Rev. , vol.8 , pp. 117-134
    • Leonard, H.1    Wen, X.2
  • 4
    • 77957968873 scopus 로고    scopus 로고
    • Genetics of early onset cognitive impairment
    • Ropers H.H. Genetics of early onset cognitive impairment. Annu. Rev. Genomics Hum. Genet. 2010, 11:161-187.
    • (2010) Annu. Rev. Genomics Hum. Genet. , vol.11 , pp. 161-187
    • Ropers, H.H.1
  • 5
    • 18344382916 scopus 로고    scopus 로고
    • X-linked mental retardation: further lumping, splitting and emerging phenotypes
    • Kleefstra T., Hamel B.C. X-linked mental retardation: further lumping, splitting and emerging phenotypes. Clin. Genet. 2005, 67:451-467.
    • (2005) Clin. Genet. , vol.67 , pp. 451-467
    • Kleefstra, T.1    Hamel, B.C.2
  • 6
    • 84859514257 scopus 로고    scopus 로고
    • Fragile X and X-linked intellectual disability: four decades of discovery
    • Lubs H.A., et al. Fragile X and X-linked intellectual disability: four decades of discovery. Am. J. Hum. Genet. 2012, 90:579-590.
    • (2012) Am. J. Hum. Genet. , vol.90 , pp. 579-590
    • Lubs, H.A.1
  • 7
    • 84881618216 scopus 로고    scopus 로고
    • XLID-causing mutations and associated genes challenged in light of data form large-scale human exome sequencing
    • Piton A., et al. XLID-causing mutations and associated genes challenged in light of data form large-scale human exome sequencing. Am. J. Hum. Genet. 2013, 93:368-383.
    • (2013) Am. J. Hum. Genet. , vol.93 , pp. 368-383
    • Piton, A.1
  • 8
    • 84857434829 scopus 로고    scopus 로고
    • Genomics, intellectual disability, and autism
    • Mefford H.C., et al. Genomics, intellectual disability, and autism. N. Engl. J. Med. 2012, 366:733-743.
    • (2012) N. Engl. J. Med. , vol.366 , pp. 733-743
    • Mefford, H.C.1
  • 9
    • 84863970074 scopus 로고    scopus 로고
    • De novo mutations in human genetic disease
    • Veltman J.A., Brunner H.G. De novo mutations in human genetic disease. Nat. Rev. Genet. 2012, 13:565-575.
    • (2012) Nat. Rev. Genet. , vol.13 , pp. 565-575
    • Veltman, J.A.1    Brunner, H.G.2
  • 10
    • 33749465589 scopus 로고    scopus 로고
    • Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
    • Rauch A., et al. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am. J. Med. Genet. A 2006, 140:2063-2074.
    • (2006) Am. J. Med. Genet. A , vol.140 , pp. 2063-2074
    • Rauch, A.1
  • 11
    • 84868686559 scopus 로고    scopus 로고
    • Diagnostic exome sequencing in persons with severe intellectual disability
    • de Ligt J., et al. Diagnostic exome sequencing in persons with severe intellectual disability. N. Engl. J. Med. 2012, 367:1921-1929.
    • (2012) N. Engl. J. Med. , vol.367 , pp. 1921-1929
    • de Ligt, J.1
  • 12
    • 0023239442 scopus 로고
    • Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children
    • Lander E.S., Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 1987, 236:1567-1570.
    • (1987) Science , vol.236 , pp. 1567-1570
    • Lander, E.S.1    Botstein, D.2
  • 13
    • 33947220860 scopus 로고    scopus 로고
    • Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci
    • Najmabadi H., et al. Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Hum. Genet. 2007, 121:43-48.
    • (2007) Hum. Genet. , vol.121 , pp. 43-48
    • Najmabadi, H.1
  • 14
    • 78951473016 scopus 로고    scopus 로고
    • Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots
    • Kuss A.W., et al. Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum. Genet. 2011, 129:141-148.
    • (2011) Hum. Genet. , vol.129 , pp. 141-148
    • Kuss, A.W.1
  • 15
    • 79958829439 scopus 로고    scopus 로고
    • Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity
    • Abou Jamra R., et al. Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. Eur. J. Hum. Genet. 2011, 19:1161-1166.
    • (2011) Eur. J. Hum. Genet. , vol.19 , pp. 1161-1166
    • Abou Jamra, R.1
  • 16
    • 84860491233 scopus 로고    scopus 로고
    • Autosomal recessive nonsyndromic deafness genes: a review
    • Duman D., Tekin M. Autosomal recessive nonsyndromic deafness genes: a review. Front. Biosci. 2012, 17:2213-2236.
    • (2012) Front. Biosci. , vol.17 , pp. 2213-2236
    • Duman, D.1    Tekin, M.2
  • 17
    • 79961058538 scopus 로고    scopus 로고
    • Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans
    • Pak C., et al. Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans. Proc. Natl. Acad. Sci. U.S.A. 2011, 108:12390-12395.
    • (2011) Proc. Natl. Acad. Sci. U.S.A. , vol.108 , pp. 12390-12395
    • Pak, C.1
  • 18
    • 80052170163 scopus 로고    scopus 로고
    • MED23 mutation links intellectual disability to dysregulation of immediate early gene expression
    • Hashimoto S., et al. MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. Science 2011, 333:1161-1163.
    • (2011) Science , vol.333 , pp. 1161-1163
    • Hashimoto, S.1
  • 19
    • 79952605814 scopus 로고    scopus 로고
    • Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13
    • Caliskan M., et al. Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. Hum. Mol. Genet. 2011, 20:1285-1289.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 1285-1289
    • Caliskan, M.1
  • 20
    • 84867260310 scopus 로고    scopus 로고
    • A population-based study of autosomal-recessive disease-causing mutations in a founder population
    • Chong J.X., et al. A population-based study of autosomal-recessive disease-causing mutations in a founder population. Am. J. Hum. Genet. 2012, 91:608-620.
    • (2012) Am. J. Hum. Genet. , vol.91 , pp. 608-620
    • Chong, J.X.1
  • 21
    • 18544386723 scopus 로고    scopus 로고
    • FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation
    • Meloni I., et al. FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Nat. Genet. 2002, 30:436-440.
    • (2002) Nat. Genet. , vol.30 , pp. 436-440
    • Meloni, I.1
  • 22
    • 80053906761 scopus 로고    scopus 로고
    • Deep sequencing reveals 50 novel genes for recessive cognitive disorders
    • Najmabadi H., et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 2011, 478:57-63.
    • (2011) Nature , vol.478 , pp. 57-63
    • Najmabadi, H.1
  • 24
    • 84870879483 scopus 로고    scopus 로고
    • Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia
    • Schuurs-Hoeijmakers J.H., et al. Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. Am. J. Hum. Genet. 2012, 91:1073-1081.
    • (2012) Am. J. Hum. Genet. , vol.91 , pp. 1073-1081
    • Schuurs-Hoeijmakers, J.H.1
  • 25
    • 44649135099 scopus 로고    scopus 로고
    • The La-related protein LARP7 is a component of the 7SK ribonucleoprotein and affects transcription of cellular and viral polymerase II genes
    • Markert A., et al. The La-related protein LARP7 is a component of the 7SK ribonucleoprotein and affects transcription of cellular and viral polymerase II genes. EMBO Rep. 2008, 9:569-575.
    • (2008) EMBO Rep. , vol.9 , pp. 569-575
    • Markert, A.1
  • 26
    • 84866299495 scopus 로고    scopus 로고
    • Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism
    • Alazami A.M., et al. Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism. Hum. Mutat. 2012, 33:1429-1434.
    • (2012) Hum. Mutat. , vol.33 , pp. 1429-1434
    • Alazami, A.M.1
  • 27
    • 77955572163 scopus 로고    scopus 로고
    • Role of voltage-gated calcium channels in epilepsy
    • Zamponi G.W., et al. Role of voltage-gated calcium channels in epilepsy. Pflugers Arch. 2010, 460:395-403.
    • (2010) Pflugers Arch. , vol.460 , pp. 395-403
    • Zamponi, G.W.1
  • 28
    • 80053529552 scopus 로고    scopus 로고
    • An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17
    • Al-Owain M., et al. An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17. Clin. Genet. 2011, 80:489-492.
    • (2011) Clin. Genet. , vol.80 , pp. 489-492
    • Al-Owain, M.1
  • 29
    • 84867138730 scopus 로고    scopus 로고
    • A novel de novo 1.8Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features
    • Preiksaitiene E., et al. A novel de novo 1.8Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features. Eur. J. Med. Genet. 2012, 55:656-659.
    • (2012) Eur. J. Med. Genet. , vol.55 , pp. 656-659
    • Preiksaitiene, E.1
  • 30
    • 84860741715 scopus 로고    scopus 로고
    • Mutations in NSUN2 cause autosomal-recessive intellectual disability
    • Abbasi-Moheb L., et al. Mutations in NSUN2 cause autosomal-recessive intellectual disability. Am. J. Hum. Genet. 2012, 90:847-855.
    • (2012) Am. J. Hum. Genet. , vol.90 , pp. 847-855
    • Abbasi-Moheb, L.1
  • 31
    • 84860760092 scopus 로고    scopus 로고
    • Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability
    • Khan M.A., et al. Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. Am. J. Hum. Genet. 2012, 90:856-863.
    • (2012) Am. J. Hum. Genet. , vol.90 , pp. 856-863
    • Khan, M.A.1
  • 32
    • 84864110032 scopus 로고    scopus 로고
    • Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
    • Martinez F.J., et al. Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. J. Med. Genet. 2012, 49:380-385.
    • (2012) J. Med. Genet. , vol.49 , pp. 380-385
    • Martinez, F.J.1
  • 33
    • 33845599493 scopus 로고    scopus 로고
    • Identification of human tRNA:m5C methyltransferase catalysing intron-dependent m5C formation in the first position of the anticodon of the pre-tRNA Leu (CAA)
    • Brzezicha B., et al. Identification of human tRNA:m5C methyltransferase catalysing intron-dependent m5C formation in the first position of the anticodon of the pre-tRNA Leu (CAA). Nucleic Acids Res. 2006, 34:6034-6043.
    • (2006) Nucleic Acids Res. , vol.34 , pp. 6034-6043
    • Brzezicha, B.1
  • 34
    • 3242689583 scopus 로고    scopus 로고
    • Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation
    • Freude K., et al. Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. Am. J. Hum. Genet. 2004, 75:305-309.
    • (2004) Am. J. Hum. Genet. , vol.75 , pp. 305-309
    • Freude, K.1
  • 35
    • 84860318414 scopus 로고    scopus 로고
    • Intellectual disabilities, neuronal posttranscriptional RNA metabolism, and RNA-binding proteins: three actors for a complex scenario
    • Bardoni B., et al. Intellectual disabilities, neuronal posttranscriptional RNA metabolism, and RNA-binding proteins: three actors for a complex scenario. Prog. Brain Res. 2012, 197:29-51.
    • (2012) Prog. Brain Res. , vol.197 , pp. 29-51
    • Bardoni, B.1
  • 36
    • 41649110399 scopus 로고    scopus 로고
    • CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa
    • Noor A., et al. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. Am. J. Hum. Genet. 2008, 82:1011-1018.
    • (2008) Am. J. Hum. Genet. , vol.82 , pp. 1011-1018
    • Noor, A.1
  • 37
    • 79955046979 scopus 로고    scopus 로고
    • A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability
    • Khan M.A., et al. A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability. BMC Med. Genet. 2011, 12:56.
    • (2011) BMC Med. Genet. , vol.12 , pp. 56
    • Khan, M.A.1
  • 38
    • 84880708951 scopus 로고    scopus 로고
    • Homozygous deletion in TUSC3 causing syndromic intellectual disability: a new patient
    • Loddo S., et al. Homozygous deletion in TUSC3 causing syndromic intellectual disability: a new patient. Am. J. Med. Genet. A 2013, 161:2084-2087.
    • (2013) Am. J. Med. Genet. A , vol.161 , pp. 2084-2087
    • Loddo, S.1
  • 39
    • 80052722309 scopus 로고    scopus 로고
    • ST3GAL3 mutations impair the development of higher cognitive functions
    • Hu H., et al. ST3GAL3 mutations impair the development of higher cognitive functions. Am. J. Hum. Genet. 2011, 89:407-414.
    • (2011) Am. J. Hum. Genet. , vol.89 , pp. 407-414
    • Hu, H.1
  • 40
    • 84872486706 scopus 로고    scopus 로고
    • TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype
    • Marangi G., et al. TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype. Eur. J. Hum. Genet. 2013, 21:229-232.
    • (2013) Eur. J. Hum. Genet. , vol.21 , pp. 229-232
    • Marangi, G.1
  • 41
    • 80051519015 scopus 로고    scopus 로고
    • Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability
    • Rafiq M.A., et al. Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am. J. Hum. Genet. 2011, 89:176-182.
    • (2011) Am. J. Hum. Genet. , vol.89 , pp. 176-182
    • Rafiq, M.A.1
  • 42
    • 0035980015 scopus 로고    scopus 로고
    • RNA polymerase II elongator holoenzyme is composed of two discrete subcomplexes
    • Winkler G.S., et al. RNA polymerase II elongator holoenzyme is composed of two discrete subcomplexes. J. Biol. Chem. 2001, 276:32743-32749.
    • (2001) J. Biol. Chem. , vol.276 , pp. 32743-32749
    • Winkler, G.S.1
  • 43
    • 84857740990 scopus 로고    scopus 로고
    • Genetic mapping and exome sequencing identify variants associated with five novel diseases
    • Puffenberger E.G., et al. Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS ONE 2012, 7:e28936.
    • (2012) PLoS ONE , vol.7
    • Puffenberger, E.G.1
  • 44
    • 84862226134 scopus 로고    scopus 로고
    • Neuronal caspase 2 activity and function requires RAIDD, but not PIDD
    • Ribe E.M., et al. Neuronal caspase 2 activity and function requires RAIDD, but not PIDD. Biochem. J. 2012, 444:591-599.
    • (2012) Biochem. J. , vol.444 , pp. 591-599
    • Ribe, E.M.1
  • 45
    • 80053927702 scopus 로고    scopus 로고
    • Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function
    • Bjursell M.K., et al. Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. Am. J. Hum. Genet. 2011, 89:507-515.
    • (2011) Am. J. Hum. Genet. , vol.89 , pp. 507-515
    • Bjursell, M.K.1
  • 46
    • 84860902129 scopus 로고    scopus 로고
    • A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance
    • Ali B.R., et al. A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. Orphanet J. Rare Dis. 2012, 7:27.
    • (2012) Orphanet J. Rare Dis. , vol.7 , pp. 27
    • Ali, B.R.1
  • 47
    • 84867244386 scopus 로고    scopus 로고
    • Genome-wide linkage and association analyses implicate FASN in predisposition to uterine leiomyomata
    • Eggert S.L., et al. Genome-wide linkage and association analyses implicate FASN in predisposition to uterine leiomyomata. Am. J. Hum. Genet. 2012, 91:621-628.
    • (2012) Am. J. Hum. Genet. , vol.91 , pp. 621-628
    • Eggert, S.L.1
  • 48
    • 34248594090 scopus 로고    scopus 로고
    • A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity
    • Frayling T.M., et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 2007, 316:889-894.
    • (2007) Science , vol.316 , pp. 889-894
    • Frayling, T.M.1
  • 49
    • 67649875640 scopus 로고    scopus 로고
    • Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations
    • Boissel S., et al. Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. Am. J. Hum. Genet. 2009, 85:106-111.
    • (2009) Am. J. Hum. Genet. , vol.85 , pp. 106-111
    • Boissel, S.1
  • 50
    • 79954501471 scopus 로고    scopus 로고
    • Prevalence of chronic health conditions in children with intellectual disability: a systematic literature review
    • Oeseburg B., et al. Prevalence of chronic health conditions in children with intellectual disability: a systematic literature review. Intellect. Dev. Disabil. 2011, 49:59-85.
    • (2011) Intellect. Dev. Disabil. , vol.49 , pp. 59-85
    • Oeseburg, B.1
  • 51
    • 84858275947 scopus 로고    scopus 로고
    • Epilepsy and autism: is there a special relationshipα
    • Berg A.T., Plioplys S. Epilepsy and autism: is there a special relationshipα. Epilepsy Behav. 2012, 23:193-198.
    • (2012) Epilepsy Behav. , vol.23 , pp. 193-198
    • Berg, A.T.1    Plioplys, S.2
  • 52
    • 79953066924 scopus 로고    scopus 로고
    • Causes of learning disability and epilepsy: a review
    • Prince E., Ring H. Causes of learning disability and epilepsy: a review. Curr. Opin. Neurol. 2011, 24:154-158.
    • (2011) Curr. Opin. Neurol. , vol.24 , pp. 154-158
    • Prince, E.1    Ring, H.2
  • 53
    • 84862238819 scopus 로고    scopus 로고
    • Seizures and X-linked intellectual disability
    • Stevenson R.E., et al. Seizures and X-linked intellectual disability. Eur. J. Med. Genet. 2012, 55:307-312.
    • (2012) Eur. J. Med. Genet. , vol.55 , pp. 307-312
    • Stevenson, R.E.1
  • 54
    • 84870843714 scopus 로고    scopus 로고
    • Epilepsy in four genetically determined syndromes of intellectual disability
    • Leung H.T., Ring H. Epilepsy in four genetically determined syndromes of intellectual disability. J. Intellect. Disabil. Res. 2013, 57:3-20.
    • (2013) J. Intellect. Disabil. Res. , vol.57 , pp. 3-20
    • Leung, H.T.1    Ring, H.2
  • 55
    • 77956394126 scopus 로고    scopus 로고
    • A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24
    • Corbett M.A., et al. A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. Am. J. Hum. Genet. 2010, 87:371-375.
    • (2010) Am. J. Hum. Genet. , vol.87 , pp. 371-375
    • Corbett, M.A.1
  • 56
    • 77956361137 scopus 로고    scopus 로고
    • TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
    • Falace A., et al. TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. Am. J. Hum. Genet. 2010, 87:365-370.
    • (2010) Am. J. Hum. Genet. , vol.87 , pp. 365-370
    • Falace, A.1
  • 57
    • 84874779755 scopus 로고    scopus 로고
    • TBC1D24 truncating mutation resulting in severe neurodegeneration
    • Guven A., Tolun A. TBC1D24 truncating mutation resulting in severe neurodegeneration. J. Med. Genet. 2013, 50:199-202.
    • (2013) J. Med. Genet. , vol.50 , pp. 199-202
    • Guven, A.1    Tolun, A.2
  • 58
    • 84878122558 scopus 로고    scopus 로고
    • Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy
    • Milh M., et al. Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. Hum. Mutat. 2013, 34:869-872.
    • (2013) Hum. Mutat. , vol.34 , pp. 869-872
    • Milh, M.1
  • 59
    • 84870592909 scopus 로고    scopus 로고
    • Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences
    • Labate A., et al. Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. Epilepsia 2012, 53:e196-e199.
    • (2012) Epilepsia , vol.53
    • Labate, A.1
  • 60
    • 84874940821 scopus 로고    scopus 로고
    • Genetics of the epilepsies: where are we and where are we goingα
    • Helbig I., Lowenstein D.H. Genetics of the epilepsies: where are we and where are we goingα. Curr. Opin. Neurol. 2013, 26:179-185.
    • (2013) Curr. Opin. Neurol. , vol.26 , pp. 179-185
    • Helbig, I.1    Lowenstein, D.H.2
  • 61
    • 0141427915 scopus 로고    scopus 로고
    • Epidemiological surveys of autism and other pervasive developmental disorders: an update
    • Fombonne E. Epidemiological surveys of autism and other pervasive developmental disorders: an update. J. Autism Dev. Disord. 2003, 33:365-382.
    • (2003) J. Autism Dev. Disord. , vol.33 , pp. 365-382
    • Fombonne, E.1
  • 62
    • 0037656313 scopus 로고    scopus 로고
    • Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
    • Jamain S., et al. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat. Genet. 2003, 34:27-29.
    • (2003) Nat. Genet. , vol.34 , pp. 27-29
    • Jamain, S.1
  • 63
    • 12144291350 scopus 로고    scopus 로고
    • X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
    • Laumonnier F., et al. X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am. J. Hum. Genet. 2004, 74:552-557.
    • (2004) Am. J. Hum. Genet. , vol.74 , pp. 552-557
    • Laumonnier, F.1
  • 64
    • 84861443524 scopus 로고    scopus 로고
    • A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism
    • Celestino-Soper P.B., et al. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc. Natl. Acad. Sci. U.S.A. 2012, 109:7974-7981.
    • (2012) Proc. Natl. Acad. Sci. U.S.A. , vol.109 , pp. 7974-7981
    • Celestino-Soper, P.B.1
  • 65
    • 84881664021 scopus 로고    scopus 로고
    • Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing
    • Jiang Y.H., et al. Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am. J. Hum. Genet. 2013, 93:249-263.
    • (2013) Am. J. Hum. Genet. , vol.93 , pp. 249-263
    • Jiang, Y.H.1
  • 66
    • 55949136937 scopus 로고    scopus 로고
    • Intellectual disability co-occurring with schizophrenia and other psychiatric illness: population-based study
    • Morgan V.A., et al. Intellectual disability co-occurring with schizophrenia and other psychiatric illness: population-based study. Br. J. Psychiatry 2008, 193:364-372.
    • (2008) Br. J. Psychiatry , vol.193 , pp. 364-372
    • Morgan, V.A.1
  • 67
    • 64549147485 scopus 로고    scopus 로고
    • Support for the involvement of large copy number variants in the pathogenesis of schizophrenia
    • Kirov G., et al. Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum. Mol. Genet. 2009, 18:1497-1503.
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 1497-1503
    • Kirov, G.1
  • 68
    • 74249088463 scopus 로고    scopus 로고
    • Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
    • de Kovel C.G., et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 2010, 133:23-32.
    • (2010) Brain , vol.133 , pp. 23-32
    • de Kovel, C.G.1
  • 69
    • 79952313620 scopus 로고    scopus 로고
    • Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting
    • Betancur C. Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res. 2011, 1380:42-77.
    • (2011) Brain Res. , vol.1380 , pp. 42-77
    • Betancur, C.1
  • 70
    • 84865017141 scopus 로고    scopus 로고
    • Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly
    • Guven A., et al. Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. Neurogenetics 2012, 13:189-194.
    • (2012) Neurogenetics , vol.13 , pp. 189-194
    • Guven, A.1
  • 71
    • 84860297457 scopus 로고    scopus 로고
    • De novo gene disruptions in children on the autistic spectrum
    • Iossifov I., et al. De novo gene disruptions in children on the autistic spectrum. Neuron 2012, 74:285-299.
    • (2012) Neuron , vol.74 , pp. 285-299
    • Iossifov, I.1
  • 72
    • 34447278070 scopus 로고    scopus 로고
    • Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation
    • Ullmann R., et al. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum. Mutat. 2007, 28:674-682.
    • (2007) Hum. Mutat. , vol.28 , pp. 674-682
    • Ullmann, R.1
  • 73
    • 0142073440 scopus 로고    scopus 로고
    • Genetic and neurodevelopmental influences in autistic disorder
    • Nicolson R., Szatmari P. Genetic and neurodevelopmental influences in autistic disorder. Can. J. Psychiatry 2003, 48:526-537.
    • (2003) Can. J. Psychiatry , vol.48 , pp. 526-537
    • Nicolson, R.1    Szatmari, P.2
  • 74
    • 84860780495 scopus 로고    scopus 로고
    • De novo mutations revealed by whole-exome sequencing are strongly associated with autism
    • Sanders S.J., et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012, 485:237-241.
    • (2012) Nature , vol.485 , pp. 237-241
    • Sanders, S.J.1
  • 75
    • 84860741138 scopus 로고    scopus 로고
    • Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
    • O'Roak B.J., et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 2012, 485:246-250.
    • (2012) Nature , vol.485 , pp. 246-250
    • O'Roak, B.J.1
  • 76
    • 84860712363 scopus 로고    scopus 로고
    • Patterns and rates of exonic de novo mutations in autism spectrum disorders
    • Neale B.M., et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 2012, 485:242-245.
    • (2012) Nature , vol.485 , pp. 242-245
    • Neale, B.M.1
  • 77
    • 47249088331 scopus 로고    scopus 로고
    • Identifying autism loci and genes by tracing recent shared ancestry
    • Morrow E.M., et al. Identifying autism loci and genes by tracing recent shared ancestry. Science 2008, 321:218-223.
    • (2008) Science , vol.321 , pp. 218-223
    • Morrow, E.M.1
  • 78
    • 84880252779 scopus 로고    scopus 로고
    • Intellectual disability is associated with increased runs of homozygosity in simplex autism
    • Gamsiz E.D., et al. Intellectual disability is associated with increased runs of homozygosity in simplex autism. Am. J. Hum. Genet. 2013, 93:103-109.
    • (2013) Am. J. Hum. Genet. , vol.93 , pp. 103-109
    • Gamsiz, E.D.1
  • 79
    • 84872696957 scopus 로고    scopus 로고
    • Using whole-exome sequencing to identify inherited causes of autism
    • Yu T.W., et al. Using whole-exome sequencing to identify inherited causes of autism. Neuron 2013, 77:259-273.
    • (2013) Neuron , vol.77 , pp. 259-273
    • Yu, T.W.1
  • 80
    • 84860564877 scopus 로고    scopus 로고
    • Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism
    • Chahrour M.H., et al. Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. PLoS Genet. 2012, 8:e1002635.
    • (2012) PLoS Genet. , vol.8
    • Chahrour, M.H.1
  • 81
    • 84872722295 scopus 로고    scopus 로고
    • Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders
    • Lim E.T., et al. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron 2013, 77:235-242.
    • (2013) Neuron , vol.77 , pp. 235-242
    • Lim, E.T.1
  • 82
    • 70350548087 scopus 로고    scopus 로고
    • Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia
    • Mansour H.A., et al. Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia. Bipolar Disord. 2009, 11:701-710.
    • (2009) Bipolar Disord. , vol.11 , pp. 701-710
    • Mansour, H.A.1
  • 83
    • 77954144873 scopus 로고    scopus 로고
    • Consanguinity and increased risk for schizophrenia in Egypt
    • Mansour H., et al. Consanguinity and increased risk for schizophrenia in Egypt. Schizophr. Res. 2010, 120:108-112.
    • (2010) Schizophr. Res. , vol.120 , pp. 108-112
    • Mansour, H.1
  • 84
    • 34447305458 scopus 로고    scopus 로고
    • Variability of reproductive history across the Swiss SAPALDIA cohort - patterns and main determinants
    • Dratva J., et al. Variability of reproductive history across the Swiss SAPALDIA cohort - patterns and main determinants. Ann. Hum. Biol. 2007, 34:437-453.
    • (2007) Ann. Hum. Biol. , vol.34 , pp. 437-453
    • Dratva, J.1
  • 85
    • 79952359958 scopus 로고    scopus 로고
    • Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes
    • Ten Kate L.P., et al. Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes. J. Community Genet. 2010, 1:37-40.
    • (2010) J. Community Genet. , vol.1 , pp. 37-40
    • Ten Kate, L.P.1
  • 86
    • 84868543309 scopus 로고    scopus 로고
    • Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
    • Rauch A., et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012, 380:1674-1682.
    • (2012) Lancet , vol.380 , pp. 1674-1682
    • Rauch, A.1
  • 87
    • 84873027175 scopus 로고    scopus 로고
    • Genetic basis of intellectual disability
    • Ellison J.W., et al. Genetic basis of intellectual disability. Annu. Rev. Med. 2013, 64:441-450.
    • (2013) Annu. Rev. Med. , vol.64 , pp. 441-450
    • Ellison, J.W.1
  • 88
    • 0030033302 scopus 로고    scopus 로고
    • Genetic referrals of Middle Eastern origin in a western city: inbreeding and disease profile
    • Hoodfar E., Teebi A.S. Genetic referrals of Middle Eastern origin in a western city: inbreeding and disease profile. J. Med. Genet. 1996, 33:212-215.
    • (1996) J. Med. Genet. , vol.33 , pp. 212-215
    • Hoodfar, E.1    Teebi, A.S.2
  • 89
    • 34548402902 scopus 로고    scopus 로고
    • Consanguinity and genetic disorders. Profile from Jordan
    • Hamamy H.A., et al. Consanguinity and genetic disorders. Profile from Jordan. Saudi Med. J. 2007, 28:1015-1017.
    • (2007) Saudi Med. J. , vol.28 , pp. 1015-1017
    • Hamamy, H.A.1
  • 90
    • 77957907029 scopus 로고    scopus 로고
    • Neurogenetics: advancing the 'next-generation' of brain research
    • Zoghbi H.Y., Warren S.T. Neurogenetics: advancing the 'next-generation' of brain research. Neuron 2010, 68:165-173.
    • (2010) Neuron , vol.68 , pp. 165-173
    • Zoghbi, H.Y.1    Warren, S.T.2
  • 91
    • 75749103383 scopus 로고    scopus 로고
    • Rate, molecular spectrum, and consequences of human mutation
    • Lynch M. Rate, molecular spectrum, and consequences of human mutation. Proc. Natl. Acad. Sci. U.S.A. 2010, 107:961-968.
    • (2010) Proc. Natl. Acad. Sci. U.S.A. , vol.107 , pp. 961-968
    • Lynch, M.1
  • 92
    • 78649484216 scopus 로고    scopus 로고
    • A de novo paradigm for mental retardation
    • Vissers L.E., et al. A de novo paradigm for mental retardation. Nat. Genet. 2010, 42:1109-1112.
    • (2010) Nat. Genet. , vol.42 , pp. 1109-1112
    • Vissers, L.E.1
  • 93
    • 84862580595 scopus 로고    scopus 로고
    • Exome sequencing can improve diagnosis and alter patient management
    • Dixon-Salazar T.J., et al. Exome sequencing can improve diagnosis and alter patient management. Sci. Transl. Med. 2012, 4:138ra178.
    • (2012) Sci. Transl. Med. , vol.4
    • Dixon-Salazar, T.J.1
  • 94
    • 78651393550 scopus 로고    scopus 로고
    • Carrier testing for severe childhood recessive diseases by next-generation sequencing
    • Bell C.J., et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci. Transl. Med. 2011, 3:65ra64.
    • (2011) Sci. Transl. Med. , vol.3
    • Bell, C.J.1
  • 95
    • 84867475619 scopus 로고    scopus 로고
    • Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases
    • [Edition1]
    • Kingsmore S. Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases. PLoS Curr. 2012, 1:1-23. [Edition1]. 10.1371/e4f9877ab8ffa9.
    • (2012) PLoS Curr. , vol.1 , pp. 1-23
    • Kingsmore, S.1
  • 96
    • 49449089496 scopus 로고    scopus 로고
    • A community genetics perspective on consanguineous marriage
    • Bittles A.H. A community genetics perspective on consanguineous marriage. Community Genet. 2008, 11:324-330.
    • (2008) Community Genet. , vol.11 , pp. 324-330
    • Bittles, A.H.1
  • 97
    • 0036245054 scopus 로고    scopus 로고
    • Science and society: genetic counselling and customary consanguineous marriage
    • Modell B., Darr A. Science and society: genetic counselling and customary consanguineous marriage. Nat. Rev. Genet. 2002, 3:225-229.
    • (2002) Nat. Rev. Genet. , vol.3 , pp. 225-229
    • Modell, B.1    Darr, A.2
  • 98
    • 0001507896 scopus 로고
    • Coefficients of inbreeding and relationship
    • Wright S. Coefficients of inbreeding and relationship. Am. Nat. 1922, 56:330-338.
    • (1922) Am. Nat. , vol.56 , pp. 330-338
    • Wright, S.1
  • 99
    • 18744371004 scopus 로고    scopus 로고
    • Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation
    • Molinari F., et al. Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. Science 2002, 298:1779-1781.
    • (2002) Science , vol.298 , pp. 1779-1781
    • Molinari, F.1
  • 100
    • 8844245412 scopus 로고    scopus 로고
    • A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation
    • Higgins J.J., et al. A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation. Neurology 2004, 63:1927-1931.
    • (2004) Neurology , vol.63 , pp. 1927-1931
    • Higgins, J.J.1
  • 101
    • 33645128492 scopus 로고    scopus 로고
    • The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation
    • Basel-Vanagaite L., et al. The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. J. Med. Genet. 2006, 43:203-210.
    • (2006) J. Med. Genet. , vol.43 , pp. 203-210
    • Basel-Vanagaite, L.1
  • 102
    • 34547784323 scopus 로고    scopus 로고
    • A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation
    • Motazacker M.M., et al. A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am. J. Hum. Genet. 2007, 81:792-798.
    • (2007) Am. J. Hum. Genet. , vol.81 , pp. 792-798
    • Motazacker, M.M.1
  • 103
    • 42749089610 scopus 로고    scopus 로고
    • A defect in the TUSC3 gene is associated with autosomal recessive mental retardation
    • Garshasbi M., et al. A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am. J. Hum. Genet. 2008, 82:1158-1164.
    • (2008) Am. J. Hum. Genet. , vol.82 , pp. 1158-1164
    • Garshasbi, M.1
  • 104
    • 42749084689 scopus 로고    scopus 로고
    • Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation
    • Molinari F., et al. Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am. J. Hum. Genet. 2008, 82:1150-1157.
    • (2008) Am. J. Hum. Genet. , vol.82 , pp. 1150-1157
    • Molinari, F.1
  • 105
    • 71149100260 scopus 로고    scopus 로고
    • Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation
    • Mir A., et al. Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. Am. J. Hum. Genet. 2009, 85:909-915.
    • (2009) Am. J. Hum. Genet. , vol.85 , pp. 909-915
    • Mir, A.1
  • 106
    • 71449106786 scopus 로고    scopus 로고
    • Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation
    • Philippe O., et al. Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation. Am. J. Hum. Genet. 2009, 85:903-908.
    • (2009) Am. J. Hum. Genet. , vol.85 , pp. 903-908
    • Philippe, O.1
  • 107
    • 71149100261 scopus 로고    scopus 로고
    • A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly
    • Mochida G.H., et al. A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. Am. J. Hum. Genet. 2009, 85:897-902.
    • (2009) Am. J. Hum. Genet. , vol.85 , pp. 897-902
    • Mochida, G.H.1
  • 108
    • 84873560054 scopus 로고    scopus 로고
    • Comparison of sequencing platforms for single nucleotide variant calls in a human sample
    • Ratan A., et al. Comparison of sequencing platforms for single nucleotide variant calls in a human sample. PLoS ONE 2013, 8:e55089.
    • (2013) PLoS ONE , vol.8
    • Ratan, A.1
  • 109
    • 79958707744 scopus 로고    scopus 로고
    • Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP
    • Ropers F., et al. Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. Hum. Mol. Genet. 2011, 20:2585-2590.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 2585-2590
    • Ropers, F.1


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